KRT23[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 3116387	NM_015515.5(KRT23):c.1147C>T (p.Arg383Trp)	KRT23 (R246W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540968	NM_015515.5(KRT23):c.1118G>A (p.Arg373Gln)	KRT23 (R236Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2616429	NM_015515.5(KRT23):c.1081A>G (p.Lys361Glu)	KRT23 (K224E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523725	NM_015515.5(KRT23):c.1046G>A (p.Arg349Gln)	KRT23 (R212Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708991	NM_015515.5(KRT23):c.1018C>T (p.Leu340=)	KRT23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2317282	NM_015515.5(KRT23):c.968C>T (p.Ser323Phe)	KRT23 (S323F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148630	GRCh38/hg38 17q21.2(chr17:40927571-41313858)x1	KRT23, KRT39 +36 more	Copy number loss	See cases	GLikely benign
Select item 2323883	NM_015515.5(KRT23):c.849A>C (p.Arg283Ser)	KRT23 (R146S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3116389	NM_015515.5(KRT23):c.848G>A (p.Arg283Lys)	KRT23 (R146K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529143	NM_015515.5(KRT23):c.779A>G (p.Asp260Gly)	KRT23 (D260G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397004	NM_015515.5(KRT23):c.656T>A (p.Val219Glu)	KRT23 (V82E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548255	NM_015515.5(KRT23):c.620A>G (p.Lys207Arg)	KRT23 (K207R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615513	NM_015515.5(KRT23):c.542C>A (p.Thr181Asn)	KRT23 (T44N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526071	NM_015515.5(KRT23):c.448G>A (p.Ala150Thr)	KRT23 (A150T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116388	NM_015515.5(KRT23):c.391G>A (p.Glu131Lys)	KRT23 (E131K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259327	NM_015515.5(KRT23):c.307C>A (p.Arg103Ser)	KRT23 (R103S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392080	NM_015515.5(KRT23):c.272G>A (p.Arg91His)	KRT23 (R91H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240101	NM_015515.5(KRT23):c.205G>C (p.Gly69Arg)	KRT23 (G69R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604183	NM_015515.5(KRT23):c.202C>G (p.Leu68Val)	KRT23 (L68V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491621	NM_015515.5(KRT23):c.184G>C (p.Gly62Arg)	KRT23 (G62R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455938	NM_015515.5(KRT23):c.169G>A (p.Gly57Arg)	KRT23 (G57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458586	NM_015515.5(KRT23):c.149G>T (p.Arg50Leu)	KRT23 (R50L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355179	NM_015515.5(KRT23):c.115G>A (p.Gly39Arg)	KRT23 (G39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490335	NM_015515.5(KRT23):c.104A>C (p.His35Pro)	KRT23 (H35P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383321	NM_015515.5(KRT23):c.88A>G (p.Arg30Gly)	KRT23 (R30G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647751	NM_015515.5(KRT23):c.48T>G (p.His16Gln)	KRT23 (H16Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 564445	GRCh37/hg19 17q21.2(chr17:39043189-39492499)x1	KRT23, KRT39 +33 more	Copy number loss	not provided	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32